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| Spontaneous coronary artery dissection v0.44 | TGFBR2 | Ain Roesley Publications for gene: TGFBR2 were set to 30071989; 27879313 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.43 | TGFBR2 | Ain Roesley edited their review of gene: TGFBR2: Changed publications: 32897753, 35092149, 36103205; Changed phenotypes: Loeys-Dietz syndrome 2 MIM#610168 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.43 | TGFBR2 |
Ain Roesley changed review comment from: "Definitive" by ClinGen Aortopathy working group. Reviewed in PMID 27879313 (265 cases with variants in TGFBR2). Sources: Literature; to: PMID: 32897753 3x individuals with 2x missense and 1x +5G splice both missense variants are absent in gnomad v4 reported SCADs: circumflex coronary artery, right descending posterior coronary artery and cervico-cephalic aneurysm and arterial dissection PMID: 35092149 2x individuals from a SCAD cohort, however both without variant information PMID: 36103205 3x SCAD individuals with 2x missense variants p.Val387Leu has 569 hets + 1 hom in gnomad v4 p.Ala531Thr has 3 hets Sources: Literature |
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| Spontaneous coronary artery dissection v0.12 | TGFBR2 | Ain Roesley Marked gene: TGFBR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.12 | TGFBR2 | Ain Roesley Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.12 | TGFBR2 | Ain Roesley Classified gene: TGFBR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.12 | TGFBR2 | Ain Roesley Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.11 | TGFBR2 |
Ain Roesley gene: TGFBR2 was added gene: TGFBR2 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR2 were set to 30071989; 27879313 Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 MIM#610168 Review for gene: TGFBR2 was set to GREEN gene: TGFBR2 was marked as current diagnostic Added comment: "Definitive" by ClinGen Aortopathy working group. Reviewed in PMID 27879313 (265 cases with variants in TGFBR2). Sources: Literature |
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